Canonical Allele Identifier: CA613320517

Gene: TINF2

Linked Data

• ClinVar Variation Id: 437007
• ClinVar RCV Id: RCV000500863 ; RCV003530057
• dbSNP Id: rs1335513287
• gnomAD v2: 14-24709467-ACCTGGCTT-A
• gnomAD v4: 14-24240261-ACCTGGCTT-A
• MyVariant Identifiers: chr14:g.24709468_24709475del (hg19) ; chr14:g.24240262_24240269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240268_24240275del , CM000676.2:g.24240268_24240275del	GRCh38
NC_000014.8:g.24709474_24709481del , CM000676.1:g.24709474_24709481del	GRCh37
NC_000014.7:g.23779314_23779321del	NCBI36
NG_016650.1:g.7406_7413del
NG_054634.1:g.12852_12859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1514_1520+1del
ENST00000557921.3:c.*146_*153del	ENSP00000453157.3:n.*146_*153del
ENST00000699682.1:n.1601_1608del
ENST00000699683.1:n.1651_1658del
ENST00000699684.1:c.*804_*811del	ENSP00000514523.1:n.*804_*811del
ENST00000699685.1:n.1415_1422del
ENST00000699686.1:c.*146_*153del	ENSP00000514524.1:n.*146_*153del
ENST00000699687.1:c.*146_*153del	ENSP00000514525.1:n.*146_*153del
ENST00000699688.1:n.1411_1418del
ENST00000699689.1:n.1767_1774del
ENST00000699690.1:n.1964_1971del
ENST00000699691.1:n.2108_2115del
ENST00000699692.1:n.62_68+1del
ENST00000699693.1:n.1540_1546+1del
ENST00000699694.1:n.1870_1877del
ENST00000699695.1:c.*495_*501+1del
ENST00000699696.1:n.1514_1520+1del
ENST00000699697.1:c.1123_1130del	ENSP00000514527.1:p.Lys375Ter
ENST00000699698.1:n.1044_1051del
ENST00000699699.1:n.1535_1542del
ENST00000699700.1:n.1658_1665del
ENST00000699701.1:c.*591_*598del	ENSP00000514528.1:n.*591_*598del
ENST00000267415.12:c.1123_1129+1del
ENST00000646753.1:c.1018_1024+1del
ENST00000267415.11:c.1123_1129+1del
ENST00000399423.8:c.*146_*153del	ENSP00000382350.4:n.*146_*153del
ENST00000557915.1:n.330_336+1del
ENST00000558566.1:c.*583_*590del	ENSP00000453025.1:n.*583_*590del
ENST00000559969.5:c.969_976del
ENST00000560019.5:c.118_124+1del
ENST00000626689.2:c.*495_*501+1del
NM_001099274.1:c.1123_1129+1del
NM_012461.2:c.*146_*153del	NP_036593.2:n.*146_*153del
XM_005267528.2:c.1123_1129+1del
XM_005267529.2:c.1018_1024+1del
NM_001099274.2:c.1123_1129+1del
NM_001363668.1:c.1018_1024+1del
NM_012461.3:c.*146_*153del	NP_036593.2:n.*146_*153del
XM_011536642.2:c.*591_*598del	XP_011534944.1:n.*591_*598del
XM_017021216.2:c.481_487+1del
XM_017021217.1:c.481_487+1del
NM_001099274.3:c.1123_1129+1del
NM_001363668.2:c.1018_1024+1del